Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency

Preferred Label : Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 165150;

Details

Origin ID

165150;

UMLS CUI

C1833835;

Currated CISMeF NLP mapping
- Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) [SNOMED CT concept]
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome [ORDO Disease]
- ophthalmoplegia, progressive, with scrotal tongue and mental deficiency [MeSH concept]
- ophthalmoplegia, progressive, with scrotal tongue and mental deficiency [MeSH Supplementary Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Furrowed tongue [HPO term]
- Intellectual disability [HPO term]
- Progressive ophthalmoplegia [HPO term]
ORDO concept(s)
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome [ORDO Disease]
- ophthalmoplegia, progressive, with scrotal tongue and mental deficiency [MeSH Supplementary Concept]
- ophthalmoplegia, progressive, with scrotal tongue and mental deficiency [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients